{"id":"W2060115111","doi":"10.1002/ajmg.a.31095","title":"Severe, fetal‐onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?","year":2006,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":69,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; SickKids Foundation; Mount Sinai Hospital; University of Toronto","funders":"","keywords":"Cerebellum; Olivopontocerebellar atrophy; Neuropathology; Cerebellar hypoplasia (non-human); Hypoplasia; Pathology; Neuroscience; Cerebellar vermis; Fetus; Context (archaeology); Cerebral cortex; Cerebellar cortex; Differential diagnosis; Medicine; Central nervous system; Anatomy; Biology; Central nervous system disease; Degenerative disease; Pregnancy; Disease","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002466485,0.0009830522,0.000454225,0.0009963034,0.00113663,0.0004303314,0.0005079231,0.0009825643,0.001978564],"category_scores_gemma":[0.002369618,0.0004485941,0.000342755,0.0004587091,0.001004872,0.0003570401,0.00108431,0.0008308541,0.0003004579],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004407098,"about_ca_system_score_gemma":0.0005639392,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004833932,"about_ca_topic_score_gemma":0.004140925,"domain_scores_codex":[0.999714,0.00004067078,0.00003748687,0.00006611019,0.00007411493,0.00006757735],"domain_scores_gemma":[0.9993869,0.0001908796,0.000143072,0.00003624354,0.0000406674,0.0002022621],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00009725901,0.0000622994,0.05460347,0.00004618091,0.00003193573,0.9315717,0.001170111,0.0001643143,0.006104474,0.0003201591,0.0002776341,0.005550498],"study_design_scores_gemma":[0.00002650501,0.0002291276,0.06058124,0.00001939796,0.00004647651,0.9339292,0.0006294715,0.000451973,0.00261574,0.0003672062,0.001075535,0.00002817088],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970108,0.0002393662,0.0008510006,0.0002120764,0.00004832469,0.00003005342,0.0001200056,0.00004260688,0.001445592],"genre_scores_gemma":[0.9988086,0.0001148299,0.00061047,0.00007794165,0.00002735822,0.00000968715,0.00005724095,0.000008470162,0.0002853065],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004833932,"threshold_uncertainty_score":0.009611607,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0138817387491738,"score_gpt":0.2638722888848414,"score_spread":0.2499905501356676,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}